Overview
Our laboratory focuses on the control of breathing and pulmonary mechanics in murine models of several genetic diseases. These genetic diseases include Duchenne Muscular Dystrophy, Pompe Disease, ALS, and Spino-cerebellar ataxia Type 7. We also investigate the ability of gene therapy and neuromodulation to treat respiratory insufficiency in neuromuscular diseases. As a clinician-scientist, my goal is to bring therapy from the bench to the bedside and enhance our research at the bench through observations at the bedside.
Our clinical research focus is on the impact of novel therapies on respiratory function in Duchenne Muscular Dystrophy and Pompe Disease. We study the impact of recent therapies on breathing in these disorders and the impact of social determinants of health on clinical outcome measures.
Our clinical research focus is on the impact of novel therapies on respiratory function in Duchenne Muscular Dystrophy and Pompe Disease. We study the impact of recent therapies on breathing in these disorders and the impact of social determinants of health on clinical outcome measures.
Current Appointments & Affiliations
Professor of Pediatrics
·
2025 - Present
Pediatrics, Pulmonary and Sleep Medicine,
Pediatrics
Chief, Division of Pulmonary and Sleep Medicine
·
2021 - Present
Pediatrics, Pulmonary and Sleep Medicine,
Pediatrics
Associate Professor in Neurobiology
·
2020 - Present
Neurobiology,
Basic Science Departments
Associate Professor in Cell Biology
·
2020 - Present
Cell Biology,
Basic Science Departments
Recent Publications
AAV9 gene therapy to target respiratory insufficiency in the D2.mdx mouse model of duchenne muscular dystrophy.
Journal Article Respir Physiol Neurobiol · 2026 Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by a deficiency of dystrophin. Dystrophin deficiency leads to progressive muscle weakness, including involvement of the respiratory muscles, ultimately resulting in respiratory fail ... Full text Link to item CitePredictors of respiratory decline in neuromuscular disorders.
Journal Article Respir Med · January 2026 Neuromuscular diseases (NMDs) constitute a heterogeneous group of genetic and acquired disorders that lead to progressive muscle weakness. When the respiratory muscles are involved, impaired ventilation and ineffective airway clearance become a major sourc ... Full text Link to item CiteComplete neutralizing antibody evasion by serodivergent non-mammalian AAVs enables gene therapy redosing.
Journal Article Cell Rep Med · December 16, 2025 The use of adeno-associated virus (AAV) as a gene therapy vector is significantly limited by pre-existing immunity. The high seroprevalence and broad antigenic cross-reactivity of primate-derived AAVs restrict patient eligibility and preclude therapeutic r ... Full text Link to item CiteRecent Grants
A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy (Start up)
Clinical TrialPrincipal Investigator · Awarded by Pfizer, Inc. · 2025 - 2040A Phase 3, Multinational, Long-Term Follow-Up Study to Evaluate Safety and Efficacy in Subjects Who Have Previously Received SRP-9001 in a Clinical study
Clinical TrialPrincipal Investigator · Awarded by Sarepta Therapeutics, Inc. · 2024 - 2031Unified Program for Therapeutics in Children
Inst. Training Prgm or CMEPreceptor · Awarded by National Institutes of Health · 2025 - 2030View All Grants
Education, Training & Certifications
Queens University Belfast (United Kingdom) ·
2001
M.B.B.S.